Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
KLC4 Q9NSK0 kinesin light chain 4 1.2E-03 0.743 0.308
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769